Gene Therapy Offers Canavan Disease Hope

A rare inherited neurological disorder, Canavan disease has a devastating effect on patients and families. The lack of a specific enzyme — known as aspartoacylase — causes the body's central nervous system to break down. Complications associated with the disease include mental retardation, blindness, and an inability to walk. In addition, Canavan disease is often fatal, with many patients dying before they reach 18 months of age, according to the NIH.

Moreover, there is no cure or standard treatment for Canavan disease. But a new study, performed in part by The Children's Hospital of Philadelphia researchers, could offer treatment hopes.

Children's Hospital's neuroradiologist Larissa Bilaniuk, MD, along with Dah-Jyuu Wang, PhD, CHOP's chief of Magnetic Resonance Spectroscopy, were among the co-authors of a new scientific study that reported on the long-term results of gene therapy for this disorder. The study, published Dec. 19 in Science Translational Medicine, was the first clinical application of a viral-based gene therapy for a neurodegenerative disorder.

The patients received gene therapy between 2001 and 2005. While not a cure, the study showed that the gene therapy was safe, reduced the frequency of the patients' seizures, and stabilized their conditions, especially in the youngest patients. The research team concluded that early detection and gene therapy may offer the best results among infants diagnosed with Canavan disease.